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World Journal of Pediatrics
Published in: World Journal of Pediatrics 1/2021

01-02-2021 | Metabolic Alkalosis | Review Article

Bartter’s syndrome: clinical findings, genetic causes and therapeutic approach

Authors: Flavia Cristina Carvalho Mrad, Sílvia Bouissou Morais Soares, Luiz Alberto Wanderley de Menezes Silva, Pedro Versiani dos Anjos Menezes, Ana Cristina Simões-e-Silva

Published in: World Journal of Pediatrics | Issue 1/2021

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Abstract

Backgound

Bartter’s syndrome (BS) is a rare group of salt losing tubulopathies due to the impairment of transport mechanisms at the thick ascending limb of the Henle’s loop.

Data sources

Literature reviews and original research articles were collected from database, including PubMed and Scopus.

Results

According to the time of onset and symptoms, BS can be classified into antenatal and classic BS. Molecular studies have identified different subtypes of BS. BS types I, II and III are caused by mutations on genes encoding the luminal Na+–K+–2Cl− co-transporter, the luminal K+ channel ROMK, and the basolateral chloride channel ClC-Kb (CLCNKB), respectively. Loss-of-function mutations of Barttin CLCNK type accessory beta subunit cause BS type IVa. Simultaneous mutations of CLCNKB and CLCNKA cause BS type IVb. BS type V consists in a novel transient form characterized by antenatal presentation due to mutations in the MAGE family member D2. Severe gain-of-function mutations of the extracellular calcium sensing receptor gene can result in an autosomal dominant condition of BS. Main clinical and biochemical alterations in BS include polyuria, dehydration, hypokalemia, hypochloremic metabolic alkalosis, hyperreninemia, high levels of prostaglandins, normal or low blood pressure, hypercalciuria and failure to thrive. Treatment focuses mainly at correcting dehydration and electrolyte disturbances and in measures to reduce polyuria, including the use of nonsteroidal anti-inflammatory medications to control excessive renal prostaglandin E2 production.

Conclusions

Early diagnosis and treatment of BS may prevent long-term consequences such as growth failure, nephrocalcinosis and end-stage renal disease.
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Metadata
Title
Bartter’s syndrome: clinical findings, genetic causes and therapeutic approach
Authors
Flavia Cristina Carvalho Mrad
Sílvia Bouissou Morais Soares
Luiz Alberto Wanderley de Menezes Silva
Pedro Versiani dos Anjos Menezes
Ana Cristina Simões-e-Silva
Publication date
01-02-2021
Publisher
Springer Singapore
Published in
World Journal of Pediatrics / Issue 1/2021
Print ISSN: 1708-8569
Electronic ISSN: 1867-0687
DOI
https://doi.org/10.1007/s12519-020-00370-4

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